换一批Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
第一作者：
Leslie A,Lange
第一单位：
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
作者：
Leslie A,Lange [1]
;
Youna,Hu [2]
;
He,Zhang [3]
;
Chenyi,Xue [4]
;
Ellen M,Schmidt [4]
;
Zheng-Zheng,Tang [5]
;
Chris,Bizon [6]
;
Ethan M,Lange [7]
;
Joshua D,Smith [8]
;
Emily H,Turner [8]
;
Goo,Jun [2]
;
Hyun Min,Kang [2]
;
Gina,Peloso [9]
;
Paul,Auer [10]
;
Kuo-Ping,Li [2]
;
Jason,Flannick [11]
;
Ji,Zhang [3]
;
Christian,Fuchsberger [2]
;
Kyle,Gaulton [12]
;
Cecilia,Lindgren [12]
;
Adam,Locke [2]
;
Alisa,Manning [13]
;
Xueling,Sim [2]
;
Manuel A,Rivas [12]
;
Oddgeir L,Holmen [14]
;
Omri,Gottesman [15]
;
Yingchang,Lu [16]
;
Douglas,Ruderfer [17]
;
Eli A,Stahl [17]
;
Qing,Duan [1]
;
Yun,Li [18]
;
Peter,Durda [19]
;
Shuo,Jiao [20]
;
Aaron,Isaacs [21]
;
Albert,Hofman [22]
;
Joshua C,Bis [23]
;
Adolfo,Correa [24]
;
Michael E,Griswold [24]
;
Johanna,Jakobsdottir [25]
;
Albert V,Smith [26]
;
Pamela J,Schreiner [27]
;
Mary F,Feitosa [28]
;
Qunyuan,Zhang [28]
;
Jennifer E,Huffman [29]
;
Jacy,Crosby [30]
;
Christina L,Wassel [31]
;
Ron,Do [9]
;
Nora,Franceschini [32]
;
Lisa W,Martin [33]
;
Jennifer G,Robinson [34]
;
Themistocles L,Assimes [35]
;
David R,Crosslin [36]
;
Elisabeth A,Rosenthal [37]
;
Michael,Tsai [27]
;
Mark J,Rieder [8]
;
Deborah N,Farlow [38]
;
Aaron R,Folsom [27]
;
Thomas,Lumley [39]
;
Ervin R,Fox [24]
;
Christopher S,Carlson [20]
;
Ulrike,Peters [20]
;
Rebecca D,Jackson [40]
;
Cornelia M,van Duijn [21]
;
André G,Uitterlinden [41]
;
Daniel,Levy [42]
;
Jerome I,Rotter [43]
;
Herman A,Taylor [44]
;
Vilmundur,Gudnason [26]
;
David S,Siscovick [45]
;
Myriam,Fornage [46]
;
Ingrid B,Borecki [28]
;
Caroline,Hayward [29]
;
Igor,Rudan [47]
;
Y Eugene,Chen [3]
;
Erwin P,Bottinger [15]
;
Ruth J F,Loos [16]
;
Pål,Sætrom [48]
;
Kristian,Hveem [14]
;
Michael,Boehnke [2]
;
Leif,Groop [49]
;
Mark,McCarthy [50]
;
Thomas,Meitinger [51]
;
Christie M,Ballantyne [52]
;
Stacey B,Gabriel [53]
;
Christopher J,O'Donnell [54]
;
Wendy S,Post [55]
;
Kari E,North [32]
;
Alexander P,Reiner [56]
;
Eric,Boerwinkle [30]
;
Bruce M,Psaty [57]
;
David,Altshuler [58]
;
Sekar,Kathiresan [59]
;
Dan-Yu,Lin [5]
;
Gail P,Jarvik [60]
;
L Adrienne,Cupples [61]
;
Charles,Kooperberg [20]
;
James G,Wilson [62]
;
Deborah A,Nickerson [8]
;
Goncalo R,Abecasis [2]
;
Stephen S,Rich [63]
;
Russell P,Tracy [64]
;
Cristen J,Willer [65]
;
NHLBI Grand Opportunity Exome Sequencing Project
作者单位：
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
[1]
Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.
[2]
Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA.
[3]
Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA.
[4]
Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
[5]
Renaissance Computing Institute, Chapel Hill, NC 27517, USA.
[6]
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
[7]
Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
[8]
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA.
[9]
Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA; School of Public Health, University of Wisconsin - Milwaukee, Milwaukee, WI 53201, USA.
[10]
Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA.
[11]
Wellcome Trust Centre for Human Genetics, University of Oxford, OX1 2JD Oxford, UK.
[12]
Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA; School of Public Health, University of Wisconsin - Milwaukee, Milwaukee, WI 53201, USA; Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA; Department of Genetics, Harvard Medical School, Boston, MA 02138, USA.
[13]
HUNT Research Center, Department of Public Health, Norwegian University of Science and Technology, 7600 Levanger, Norway.
[14]
The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
[15]
The Genetics of Obesity and Related Metabolic Traits Program, The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
[16]
Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
[17]
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Computer Science, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
[18]
Department of Pathology, University of Vermont, Colchester, VT 05446, USA.
[19]
Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
[20]
Genetic Epidemiology Unit, Department of Epidemiology, Erasmus University Medical Center, 3015 DR Rotterdam, the Netherlands.
[21]
Department of Epidemiology, Erasmus University Medical Center, 3000 DR Rotterdam, the Netherlands.
[22]
Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
[23]
Department of Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA.
[24]
Icelandic Heart Association, IS-201 Kopavogur, Iceland.
[25]
Icelandic Heart Association, IS-201 Kopavogur, Iceland; University of Iceland, 101 Reykjavik, Iceland.
[26]
Division of Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis, MN 55454, USA.
[27]
Division of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
[28]
Medical Research Center for Human Genetics, Medical Research Center Institute of Genetics and Molecular Medicine, University of Edinburgh, EH4 2XU Edinburgh, UK.
[29]
Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
[30]
Department of Epidemiology, University of Pittsburgh, Pittsburgh, PA 15261, USA.
[31]
Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
[32]
Division of Cardiology, George Washington School of Medicine and Health Sciences, Washington, DC 20037, USA.
[33]
Departments of Epidemiology and Medicine, University of Iowa, Iowa City, IA 52242, USA.
[34]
Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
[35]
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Department of Biostatistics, University of Washington, Seattle, WA 98195, USA.
[36]
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
[37]
Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA.
[38]
Department of Biostatistics, University of Washington, Seattle, WA 98195, USA; Department of Statistics, University of Auckland, Auckland 1142, New Zealand.
[39]
Division of Endocrinology, Ohio State University, Columbus, OH 43210, USA.
[40]
Department of Internal Medicine, Erasmus University Medical Center, 3000 DR Rotterdam, the Netherlands.
[41]
Center for Population Studies, National Heart, Lung, and Blood Institute, Framingham, MA 01702, USA; Framingham Heart Study, National Heart, Lung, and Blood Institute, Framingham, MA 01702, USA.
[42]
Institute for Translational Genomics and Population Sciences, Los Angeles BioMedical Research Institute, and Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
[43]
Department of Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA; Tougaloo College, Jackson, MS 39174, USA; Jackson State University, Jackson, MS 39217, USA.
[44]
Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Department of Epidemiology, University of Washington, Seattle, WA 98195, USA; Department of Medicine, University of Washington Medical Center, Seattle, WA 98195, USA.
[45]
Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Institute of Molecular Medicine, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
[46]
Centre for Population Health Sciences, Medical School, University of Edinburgh, EH8 9YL Edinburgh, UK.
[47]
Department of Computer and Information Science, Norwegian University of Science and Technology, 7491 Trondheim, Norway; Department of Cancer Research and Molecular Medicine, Norwegian University of Science and Technology, 7489 Trondheim, Norway.
[48]
Department of Clinical Sciences, Diabetes, and Endocrinology, Lund University, Skåne University Hospital, 221 00 Malmö, Sweden; Glostrup Research Institute, Glostrup University Hospital, 2600 Glostrup, Denmark.
[49]
Oxford Centre for Diabetes, Endocrinology, and Metabolism and Oxford National Institute for Health Research Biomedical Research Centre, University of Oxford, Churchill Hospital, OX1 2JD Oxford, UK.
[50]
Institute of Human Genetics, Helmholtz Center Munich, German Research Center for Environmental Health, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University of Munich, 85764 Neuherberg, Germany.
[51]
Baylor College of Medicine, Houston, TX 77030, USA; Houston Methodist DeBakey Heart and Vascular Center, Houston, TX 77030, USA.
[52]
Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA.
[53]
Center for Population Studies, National Heart, Lung, and Blood Institute, Framingham, MA 01702, USA; Cardiology Division, Massachusetts General Hospital, Boston, MA 02114, USA.
[54]
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
[55]
Department of Epidemiology, University of Washington, Seattle, WA 98195, USA.
[56]
Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Department of Epidemiology, University of Washington, Seattle, WA 98195, USA; Department of Medicine, University of Washington Medical Center, Seattle, WA 98195, USA; Group Health Research Institute, Group Health Cooperative, Seattle, WA 98195, USA.
[57]
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Genetics, Harvard Medical School, Boston, MA 02138, USA.
[58]
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA; Cardiology Division, Massachusetts General Hospital, Boston, MA 02114, USA.
[59]
Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
[60]
Center for Population Studies, National Heart, Lung, and Blood Institute, Framingham, MA 01702, USA; Department of Biostatistics, Boston University School of Public Health, Boston, MA 02215, USA.
[61]
Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
[62]
Center for Public Health Genomics, University of Virginia, Charlottesville, VA 22908, USA.
[63]
Department of Pathology, University of Vermont, Colchester, VT 05446, USA; Department of Biochemistry, University of Vermont, Burlington, VT 05405, USA.
[64]
Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA. Electronic address: cristen@umich.edu.
[65]
医学主题词
成年人(Adult);老年人(Aged);载脂蛋白E类(Apolipoproteins E);胆固醇, LDL(Cholesterol, LDL);队列研究(Cohort Studies);血脂异常(Dyslipidemias);女(雌)性(Female);随访研究(Follow-Up Studies);基因频率(Gene Frequency);遗传密码(Genetic Code);全基因组关联研究(Genome-Wide Association Study);基因型(Genotype);人类(Humans);脂肪酶(Lipase);男(雄)性(Male);中年人(Middle Aged);表型(Phenotype);多态性, 单核苷酸(Polymorphism, Single Nucleotide);前蛋白转化酶类(Proprotein Convertases);受体, LDL(Receptors, LDL);序列分析, DNA(Sequence Analysis, DNA);丝氨酸内肽酶类(Serine Endopeptidases)
DOI
10.1016/j.ajhg.2014.01.010
PMID
24507775
发布时间
2025-05-29
- 浏览95
American journal of human genetics
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